Individual #00003493

Ethnic origin Spanish/spanish
Reference -
Remarks -
Cuadro familiar Colon cancer
Panel size 1
Diseases Colon cancer
Owner name Marcela Lopez-CEMAFE
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003816 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ABRAXAS1, ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2. 15-sep-2022 Multigenetic panel - 5 Marcela Lopez-CEMAFE



Variants

5 entries on 1 page. Showing entries 1 - 5.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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dbSNP ID     

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RNA change     

Review status     
2 Unknown ?/? g.232336548G>A - DIS3L2_000009 rs570999208 - Marcela Lopez-CEMAFE DIS3L2 21 NM_152383.4:c.2576G>A p.(Arg859Gln) Hetero no r.? -
7 Unknown ?/? g.6002485G>A - PMS2_000074 rs730881916 - Marcela Lopez-CEMAFE PMS2 5 NM_000535.7:c.505C>T p.Arg169Cys Hetero no r.? -
9 Unknown ?/? g.98831947G>A - GALNT12_000005 rs145236923 - Marcela Lopez-CEMAFE GALNT12 4 NM_024642.5:c.907G>A p.Asn303Asn Hetero no r.? -
12 Unknown ?/? g.132624783G>A - POLE_000051 rs866548835 - Marcela Lopez-CEMAFE POLE 49 NM_006231.4:c.6775C>T p.(Arg2259Trp) Hetero no r.? -
16 Unknown +?/+? g.(?_89804992)_(89849529_?)del - FANCA_000023 - - Marcela Lopez-CEMAFE FANCA 16-43 NM_000135.4:deletion 16-43 exon p.? Hetero no r.? -
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